ClinVar Genomic variation as it relates to human health
NM_178554.6(KY):c.1374G>A (p.Ser458=)
Germline
Classification
(1)
Likely benign
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CEP63 | - | - |
GRCh38 GRCh37 |
265 | 395 | |
KY | - | - |
GRCh38 GRCh37 |
- | 130 | |
LOC123038188 | - | - | - | GRCh38 | - | 21 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 1, 2024 | RCV003886731.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 08, 2024